[Genetic analysis and assisted reproductive guidance for two infertile patients with rare small supernumerary marker chromosomes].

Objective: To carry out cytogenetic and molecular genetic analysis for two infertile patients carrying rare small supernumerary marker chromosomes (sSMC).

Methods: Two infertile patients who received reproductive and genetic counseling at CITIC Xiangya Reproductive and Genetic Hospital on October 31, 2018 and May 10, 2021, respectively were selected as the study subjects. The origin of sSMCs was determined by conventional G banding, fluorescence in situ hybridization (FISH) and copy number variation sequencing (CNV-seq).

A case report of a normal fertile woman with 46,XX/46,XY somatic chimerism reveals a critical role for germ cells in sex determination.

Individuals with 46,XX/XY chimerism can display a wide range of characteristics, varying from hermaphroditism to complete male or female, and can display sex chromosome chimerism in multiple tissues, including the gonads. The gonadal tissues of females contain both granulosa and germ cells. However, the specific sex chromosome composition of the granulosa and germ cells in 46,XX/XY chimeric female is currently unknown.

Mycotic subclavian artery aneurysms: a scoping review.

Introduction: Mycotic subclavian artery aneurysms (SAAs) are a very rare disorder.

Aim: To provide an overview of current knowledge on clinical features, management strategies and outcome evaluations of mycotic SAAs.

Material And Methods: The study materials were based on comprehensive literature retrieval of publications of mycotic SAAs published between 2000 and 2023.

A comparison of neurological event and mortality rates between transcatheter aortic valve implantation and surgical aortic valve replacement.

Introduction: Transcatheter aortic valve implantation (TAVI) is the treatment of choice for patients with symptomatic severe aortic stenosis.

Aim: To evaluate the neurological event and mortality rates of TAVI in comparison with those of surgical aortic valve replacement (SAVR).

Material And Methods: A systematic literature search identified pertinent full-text journal articles published from 2000 to 2022 that were taken as the study materials.

Tracheal Bronchus in Children.

Tracheal bronchus is an uncommon congenital anomaly. It is often of important significance during endotracheal intubation. In paediatrics with tracheal bronchus, stenosis of trachea and (or) bronchus and the management strategies remain to be further clarified.

Right Atrial Tumour Thrombus in Advanced Hepatocellular Carcinoma: Surgical Techniques and Prognosis.

Hepatocellular carcinoma (HCC) with right atrium (RA) tumour thrombus is a rare condition but the treatment always poses challenges. Debates remain with regard to the use of cardiopulmonary bypass (CPB) in the surgical procedures. The aim of the present review was to summarise the surgical procedures of RA tumour thrombus removal and to discuss the pertinent indications.

Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong.

Background: GJB2 mutations are among the most important causes of deafness, and their prevalence varies greatly among different countries and ethnic groups. This study aimed to determine the pathogenic mutation spectrum of GJB2 in patients with nonsyndromic hearing loss (NSHL) in Western Guangdong and to explore the pathogenic characteristics of the c.109G>A locus.

Catheter ablation for tachyarrhythmias during pregnancy.

Introduction: Refractory arrhythmias during pregnancy pose challenges to physicians.

Aim: To give an overview of catheter ablation for tachyarrhythmias during pregnancy, and to discuss the indications of the procedure and the outcomes of both mother and fetus.

Material And Methods: The study materials were based on comprehensive literature retrieval of the pertinent articles published since 2000.

Sternal Fractures due to Blunt Chest Trauma.

The present article aimed to give an overview of sternal fractures and discuss their management and prognoses. The retrieved pertinent publications of 2011-2021 constituted the materials of the present study. The misdiagnosis rate of X-ray was 5.

Pulmonary artery pathologies in Alagille syndrome: a meta-analysis.

Alagille syndrome, caused by mutations in the gene encoding (), a ligand in the Notch signaling pathway, is an autosomal dominant disorder with developmental abnormalities affecting the liver, heart, eyes, face and skeleton. The aim of the present study is try to disclose the clinical features, management and outcomes of pulmonary artery stenosis associated with Alagille syndrome. By comprehensive literature retrieval, 38 articles involving 401 patients were recruited for this study.

Percutaneous closure of left ventricular pseudoaneurysm.

The aim of the present study is to describe the indications, treatment effects, and patient outcomes of percutaneous management of left ventricular pseudoaneurysm (LVPA). The study materials were based on comprehensive literature retrieval since 2004. The mechanisms of LVPA formation can be divided into surgical, percutaneous, and medial disease related.

The de novo aberration rate of prenatal karyotype was comparable between 1496 fetuses conceived via IVF/ICSI and 1396 fetuses from natural conception.

Purpose: To evaluate the cytogenetic risk of assisted reproductive technology (ART) by comparing the incidence of de novo chromosomal abnormalities between fetuses conceived via in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) and natural conception.

Materials And Methods: Prenatal invasive diagnostic testing (amniocentesis and cytogenetic analysis) was performed on 1496 fetuses conceived via IVF/ICSI (IVF/ICSI group) and 1396 fetuses from natural conception (NC group). The incidence of de novo chromosomal abnormalities (including aneuploidy and chromosomal structure abnormalities) was used to evaluate the cytogenetic risk of ART.

Surgical treatment of renal cell carcinoma with inferior vena cava tumor thrombus.

Purpose: The present report discusses the indications of cardiopulmonary bypass (CPB) in open nephrectomy and surgical outcomes of conventional and minimally invasive surgical techniques for treating advanced renal cell carcinoma with inferior vena cava tumor thrombus.

Methods: The present study involved a comprehensive retrieval of pertinent literature from the most recent two decades.

Results: Comparisons between radical nephrectomy procedures in terms of open, laparoscopic and robotic-assisted surgeries revealed that open surgery had more blood loss, a longer operation time and higher mortality rates than laparoscopic and robotic-assisted surgeries.

Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.

Background: Mosaicism poses challenges for genetic counseling and preimplantation genetic testing for monogenic disorders (PGT-M). NGS-based PGT-M has been extensively used to prevent the transmission of monogenic defects, but it has not been evaluated in the application of PGT-M resulting from mosaicism.

Methods: Four women suspected of mosaicism were confirmed by ultra-deep sequencing.

Reproductive risks and preimplantation genetic testing intervention for X-autosome translocation carriers.

Research Question: What is the genetic cause of multiple congenital disabilities in a girl with a maternal balanced X-autosome translocation [t(X-A)]? Is preimplantation genetic testing (PGT), to distinguish non-carrier from euploid/balanced embryos and prioritize transfer, an effective and applicable strategy for couples with t(X-A)?

Design: Karyotype analysis, whole-exome sequencing and X inactivation analysis were performed for a girl with congenital cardiac anomalies, language impairment and mild neurodevelopmental delay. PGT based on next-generation sequencing after microdissecting junction region (MicroSeq) to distinguish non-carrier and carrier embryos was used in three couples with a female t(X-A) carrier (cases 1-3).

Results: The girl carried a maternal balanced translocation 46,X,t(X;1)(q28;p31.

Clinical outcomes following preimplantation genetic testing and microdissecting junction region in couples with balanced chromosome rearrangement.

Purpose: The purpose of this study is to summarize the clinical outcomes of apparently balanced chromosome rearrangement (ABCR) carriers in preimplantation genetic testing (PGT) cycles by next-generation sequencing following microdissecting junction region (MicroSeq) to distinguish non-carrier embryos from balanced carriers.

Methods: A retrospective study of 762 ABCR carrier couples who requested PGT for structural rearrangements combined with MicroSeq at the Reproductive and Genetic Hospital of CITIC-Xiangya was conducted between October 2014 and October 2019.

Results: Trophectoderm biopsy was performed in 4122 blastocysts derived from 917 PGT-SR cycles and 3781 blastocysts were detected.

Hoarseness Due to Aortic Arch Aneurysms.

Objective: To give an overview of the Ortner's syndrome caused by an aortic arch aneurysm.

Methods: By comprehensive retrieval of the pertinent literature published in the past two decades, 75 reports including 86 patients were collected and recruited into this study along with a recent case of our own.

Results: The aortic arch aneurysms causing hoarseness were most commonly mycotic aneurysms.

Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility.

Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO). We performed whole-exome and Sanger sequencing to identify suspected causative variants in 414 idiopathic participating infertile men with SO or azoospermia. Three novel homozygous truncating variants in ZMYND15 were identified in three of the 219 (1.

Parachute Mitral Valve: Anatomy and Operation.

Parachute mitral valve is a rare congenital heart defect characterised by a distorted mitral geometry with a single papillary muscle for all mitral chords to attach. It may develop in isolation or as a constillation of Shone syndrome. By comprehensive retrieval of the pertinent articles published since 2000, 22 articles with 149 cases of parachute mitral valve were recruited into this study.

Parachute tricuspid valve: a systematic review.

Background: A parachute tricuspid valve is a very rare congenital cardiac anomaly. Its morphological features and clinical implications have not been sufficiently described so far. The purpose of the present systematic review is to disclose the morphological and clinical characteristics of parachute tricuspid valve, and to discuss its diagnostic methods, treatments and patients' outcomes.

The genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and implications for assisted reproduction.

Purpose: To elucidate the genetic cause of intellectual deficiency and/or congenital malformations in two parental reciprocal translocation carriers and provide appropriate strategies of assisted reproductive therapy (ART).

Materials And Methods: Two similar couples having a child with global developmental delay/intellectual disability symptoms attended the Reproductive and Genetic Hospital of CITIC-Xiangya (Changsha, China) in 2017 and 2019, respectively, in order to determine the cause(s) of the conditions affecting their child and to seek ART to have a healthy baby. Both of the healthy couples were not of consanguineous marriage, denied exposure to toxicants, and had no adverse life history.

Coronary Artery Bypass Grafting in Patients with Systemic Lupus Erythematosus.

Surgical treatment of coronary artery disease in the systemic lupus erythematosus (SLE) patients has not been comprehensively addressed. The present review aimed to give an overview of coronary artery disease in the SLE patients receiving coronary artery bypass grafting (CABG). The study materials were based on comprehensive literature retrieval, which recruited 17 pertinent articles with 30 patients.

Interleukin-6 in Patients with Cardiac Myxoma.

The relationships between interleukin (IL)-6 and cardiac myxoma remain to be clarified. This article systematically reviewed the IL-6 properties in cardiac myxoma patients based on retrieval of pertinent literature published between 1998 and 2018. Significant differences were found in circulating IL-6 values between preoperation and 1 and 6 months after operation.